期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 75, 期 2, 页码 161-173出版社
CELL PRESS
DOI: 10.1086/422475
关键词
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资金
- NCRR NIH HHS [RR-00084, M01 RR000084] Funding Source: Medline
- NIDCR NIH HHS [P60 DE013076-030005, K02 DE015291, R01 DE014667-03, K02 DE015291-02, P60 DE013076-03S10005, R01 DE014667-05, P60-DE13076, R01 DE014667-02, R01 DE008559, R01-DE-14667, R01 DE009886, R01 DE014667, K02 DE015291-04, P60 DE013078, P60 DE013076-010005, R01 DE014667-01, R01 DE016148, P60 DE013076-01S10005, R01 DE014667-08, R01 DE014667-07, R01-DE-12472, K02 DE015291-01, P60-DE-13078, R01 DE014667-06, K02 DE015291-03, P60 DE013076-050005, K02 DE015291-05, R01 DE014667-04, R01-DE-08559, P60 DE013076-040005, P60 DE013076-020005, P60-DE-13076, R01-DE-09886, P60 DE013076] Funding Source: Medline
Isolated or nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex etiology. A 10-cM genome scan of 388 extended multiplex families with CL/P from seven diverse populations (2,551 genotyped individuals) revealed CL/P genes in six chromosomal regions, including a novel region at 9q21 (heterogeneity LOD score [HLOD] = 6.6). In addition, meta-analyses with the addition of results from 186 more families ( six populations; 1,033 genotyped individuals) showed genomewide significance for 10 more regions, including another novel region at 2q32-35 (P = .0004). These are the first genomewide significant linkage results ever reported for CL/P, and they represent an unprecedented demonstration of the power of linkage analysis to detect multiple genes simultaneously for a complex disorder.
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